Biomedical subjects

R Fragoso

Publications and source records attributed to R Fragoso.

39 records · Page 3Linked to original sources

PubMedDate not supplied

[Van der Woude's syndrome].

Seven males and seven females from three different families with the syndrome of cleft lip--palate and congenital lower--lip pits, also called van der Wound's are described. An autosomal dominant pattern of inheritance was compatible in the three families. The incomplete penetrance and variable expressivity of the syndrome are analyzed and some aspects of genetic counseling are discussed on the basis of empirical recurrence risks already established for this disorder.

Child, Preschool↗

PubMedDate not supplied

[Cleidocranial dysplasia].

Five sporadic cases of cleidocranial dysostosis are described. Besides the classical findings, the clinical and roentgenological evaluation showed bilateral macrodactily of the second toe, aplasia of the 12th rib and severe acetabular dysplasia. This features had not been previously reported in medical literature. The importance of an early diagnosis is stressed for adequate orthopedic and odontologic management, as well as for opportune genetic counseling.

Adolescent↗

PubMedDate not supplied

[Hypermethioninemia. Apropos of a case in a consanguineous couple].

We describe a female child from a consanguineous marriage (uncle-niece) with hypermethioninemia and hypermethioninuria without homocystinuria. She had several signs and symptoms previously undescribed in this pathology as growth retardation, generalized hypotonia, digestive disturbances, white skin, hypochromia of iris, thin, sparse and blond scalp hair. The pedigree suggests an autosomal recessive inheritance pattern.

Consanguinity↗